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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCCC2
(R155Q)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic/Likely pathogenic
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance